Dificuldades diagnósticas na atrofia muscular espinhal

Araújo, Alexandra Prufer de Q-C.; Ramos, Vivianne Galante; Cabello, Pedro Hernán

doi:10.1590/s0004-282x2005000100026

Cited by 14 publications

(12 citation statements)

References 20 publications

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“…This small amount of muscle mass corroborates the clinical profile of weakness observed in SMA patients [1][2][3][4]6,8 . A recent Brazilian study 27 reported that 90% of the patients exhibited severe depletion of muscle reserve, in agreement with our results.…”

Section: Discussionsupporting

confidence: 83%

“…Spinal muscular atrophy (SMA) is a recessive, autosomal neuromuscular disease characterized by degeneration of anterior horn spinal cord motor cells and brain stem neurons [1][2][3][4][5] . It is classified by disease severity and the age at on set of symptoms, namely type I for the most severe cases and type IV for those presenting few complications 1,3,[6][7][8] .…”

Section: Introductionmentioning

confidence: 99%

“…Patients with type III get to three point of walking, wether or not they maintain this ability throughout adulthood [1][2][3]6,7 . SMA patients present progressive symmetrical proximal weakness and hypotonia [1][2][3][4]6,8 , but there is no sensory abnormality 7 . Besides muscle weakness, respiratory 9 , orthopedic 5 , and nutritional [10][11][12] problems are particularly note wortley.…”

Section: Introductionmentioning

confidence: 99%

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Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Mainenti

Sousa

Dias

et al. 2013

J. Hum. Growth Dev.

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Introduction: spinal muscular atrophy patients present muscle weakness, orthopedic problems, nutritional complications and respiratory impairment. Lean mass and fat mass modifications are also expected in this population. Objective: to verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. Methods: fourteen individuals were evaluated: seven patients in Group I of 9 (7-12) years of age, weighing 29.7 (23.5-60.0) kg; and seven children without the disease in Group II of 9 (9-12) years, weighing 31.0 (27.8-54.1) kg. Patients' monofrequency bioelectrical impedance was used for analyze body composition. Chest, hip and abdominal girths were measured by a flexible steel tape. The SPSS program was used to statistical analysis (p < 0.05). Results: patients presented higher impedance: 1416.9 (850.5-1559.1) vs 788.0 (683.6-853.8), P < 0.05; and fat percentage: 31.2 (23.9-46.6) vs 19.1 (14.9-27.0)%, P < 0.05. The difference between forced inspiration and forced expiration thorax girth was smaller for patients when comparing to Group II: 3.0 (0.8-4.4) vs. 5.0 (3.9-6.5) cm, P<0.05. Conclusions: patients with spinal muscular atrophy presented higher adiposity and lower chest expansion.

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Section: Discussionsupporting

confidence: 83%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Mainenti

Sousa

Dias

et al. 2013

J. Hum. Growth Dev.

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“…A Atrofia Muscular Espinhal (AME) faz parte de um grupo de doenças genéticas raras, de herança autossômica recessiva, caracterizada por degeneração dos neurônios motores da medula espinhal com incidência de 1 em 10.000 crianças nascidas vivas 1,2 . É classificada clinicamente em quatro tipos: severa (tipo I) ou Síndrome de Werdnig-Hoffman, intermediária (tipo II), branda (tipo III) e a do tipo IV que ocorre na fase adulta 3 .…”

Section: Introductionunclassified

Efeito e segurança da mobilização funcional em crianças com Síndrome de Werdnig-Hoffman

et al. 2015

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relato de caso RESUMO Objetivo. Investigar os efeitos e a segurança da mobilização funcional para ganho de flexibilidade em crianças com Síndrome de Werdnig--Hoffman ventiladas cronicamente. Método. Este trabalho é um relato de casos. Trata-se de crianças com diagnóstico de Síndrome de Werdnig-Hoffman, internadas em UTI Pediátrica, utilizando ventilação mecânica invasiva sob traqueostomia. As crianças foram submetidas ao protocolo de mobilização funcional por oito semanas, durante 30 minutos, cinco vezes por semana, baseado no método de neurodesenvolvimento. A flexibilidade foi avaliada semanalmente por meio de medidas goniométricas para flexão dos cotovelos, extensão dos joelhos e dorsiflexão dos tornozelos. A segurança da mobilização foi avaliada antes durante e após o procedimento através das medidas da frequência cardíaca, respiratória e a saturação de oxigênio. Resultados. Foram incluídas duas crianças com Síndrome de Werdnig Hoffman. Na avaliação inicial a criança (A) com cinco anos e a criança (B) com três anos, possuíam severa hipotonia. Durante a mobilização funcional, não foram observadas alterações nos parâmetros hemodinâ-micos e ventilatórios. As crianças apresentaram maior restrição articular em membros do lado esquerdo. Após oito semanas de mobilização funcional, observou-se ganho na amplitude de movimento articular. Conclusão. A mobilização funcional gerou efeitos positivos na flexibilidade, sem repercussões negativas em parâmetros cardiorrespiratórios. Unitermos. Atrofia Muscular Espinhal, Unidade de Terapia Intensiva, Fisioterapia, PediatriaCitação. Saquetto MB, Oliveira IKS, Ferreira JB, Oliveira CPN, Silva CMS, Gomes-Neto M. Efeito e segurança da mobilização funcional em crianças com Síndrome de Werdnig-Hoffman: relato de caso. ABSTRACTObjective. To investigate the effects and safety of functional mobilization to gain flexibility in children with Werdnig-Hoffman syndrome chronically ventilated. Method. This study is a case report. These are children with diagnosis of Werdnig-Hoffman syndrome admitted to the ICU Pediatric using invasive mechanical ventilation with tracheotomy. Children were subjected to a functional mobilization protocol for eight weeks, for 30 minutes, five times a week, based on neurodevelopmental method. Initially the flexibility was assessed by goniometric measures by bending the elbows. The safety of mobilization was assessed before, during and after the procedure by means of measurements of heart rate, respiratory and oxygen saturation. Results. We included two children with Werdnig Hoffman syndrome. In the initial evaluation child (A) at five years and the child (B) with three years possessed severe hypotonic. During functional mobilization changes in hemodynamic and ventilatory parameters were observed. Children had higher joint restriction on members of the left. After eight weeks of functional mobilization, there was a gain in joint range of motion for the child A and B for bending the elbows, knee extension and dorsiflexion of the ankle. Conclusion. Functional mobili...

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“…1 The frequency of carriers (heterozygotes) is one in 40 to 60 people. 2 This disease is caused by a homozygous mutation or deletion of the survival motor neuron gene 1 (SMN 1 ), which should be located in the telomeric region of chromosome 5q13.…”

Section: Introductionmentioning

confidence: 99%

Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras

Baioni¹,

Ambiel²

2010

J. Pediatr. (Rio J.)

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Objective: To report on recent genetic and molecular discoveries and on future prospects for the treatment of spinal muscular atrophy (SMA), thereby helping healthcare professionals to make a quick diagnosis and provide appropriate and timely therapeutic support.Sources: Information was collected from scientific articles published in the last 2 decades, retrieved from the databases SciELO, PubMed, and MEDLINE. Summary of the findings:SMA is a neurodegenerative disorder with autosomal recessive genetic heredity. It is caused by a homozygous deletion of the survival motor neuron (SMN 1 ) gene. This genetic alteration results in reduced levels of the SMN protein, leading to degeneration of alpha motor neurons of the spinal cord and resulting in muscle weakness and progressive symmetrical proximal paralysis. It is known that basic nutritional and respiratory care and physiotherapy can be important to delaying disease progression and prolonging patients' lives. Several drugs are being tested, some new, others, such as valproic acid, already known; paralysis can be halted, but not reversed. Conclusions:SMA is a difficult to diagnose disorder, because it is little known, and treatment is uncertain. Pharmacological treatments and supportive therapies are not yet able to recover motor neurons or muscle cells that have already been lost, but are aimed at delaying disease progression and improving patients' residual muscle function, as well as offering better quality of life and life expectancy.

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Dificuldades diagnósticas na atrofia muscular espinhal

Cited by 14 publications

References 20 publications

Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Efeito e segurança da mobilização funcional em crianças com Síndrome de Werdnig-Hoffman

Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras

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